RESUMEN
This work examines the database design and user interface design for a clinical genetics data collection system known as TCK. A specific design goal is automatic generation of the CORN reports. Emphasis in this paper is on how the logical data model resulting from the database design, and the user interface work together to enforce the enterprise results pertaining to data. Data screens are shown, sample queries are explained and the data mapping to the CORN reports presented.
Asunto(s)
Recolección de Datos , Genética , Programas Informáticos , Interfaz Usuario-Computador , Simulación por Computador , Linaje , Diseño de SoftwareRESUMEN
Huntingtons disease (HD) is a hereditary disorder involving the central nervous system. Its effects are devastating, to the affected person as well as his family. The Department of Medical and Molecular Genetics at Indiana University (IU) plays an integral part in Huntingtons research by providing computerized repositories of HD family information for researchers and families. The National Huntingtons Disease Research Roster, founded in 1979 at IU, and the Huntingtons Disease in Venezuela Project database contain information that has proven to be invaluable in the worldwide field of HD research. This paper addresses the types of information stored in each database, the pedigree database program (MEGADATS) used to manage the data, and significant findings that have resulted from access to the data.
Asunto(s)
Algoritmos , Bases de Datos Factuales , Enfermedad de Huntington/genética , Sistemas de Registros Médicos Computarizados , Programas Informáticos , Femenino , Humanos , Indiana , Masculino , Linaje , Sistema de Registros , VenezuelaRESUMEN
A stepwise oligogenic method is developed that can be used to adjust the phenotype of a quantitative trait for the effects of a previously identified single-locus component. This method assumes that a single-locus component can be adequately identified through the use of segregation and/or linkage analysis under a 1-locus model and that the variation due to that locus can be removed from the phenotype leaving a residual that can be parameterized in terms of an additional single-locus component. Segregation and/or linkage analysis can then be used in an attempt to identify an additional single-locus component in the residual phenotype. This stepwise process can be repeated until no further single-locus effects are identified. The method is illustrated using family data on the specific activity of dopamine-beta-hydroxylase (DBH), which a number of studies have suggested may be due either to the combined effects of single-locus and multifactorial components or to the combined effects of 2 loci.
Asunto(s)
Intercambio Genético , Dopamina beta-Hidroxilasa/metabolismo , Ligamiento Genético , Recombinación Genética , Dopamina beta-Hidroxilasa/genética , Humanos , Modelos GenéticosRESUMEN
The MEGADATS relational database system has many useful applications in the field of medical genetics. Some of these applications include storage, retrieval, and display of pedigree information; retrieval of sets of individuals, sibships, or families who meet given criteria; storage of necessary information for mailing lists, clinic data, etc; and combination of pedigree information and genotype information into the format needed for linkage analysis packages.
Asunto(s)
Genética Médica , Sistemas de Información , Linaje , Programas Informáticos , Interfaz Usuario-Computador , Humanos , Registro Médico CoordinadoRESUMEN
This work examines some of the problems encountered in developing small and large database application systems involving human genetics data collection efforts that include data on individuals as well as family pedigree data. Rapid prototyping of a database application requires software tools to produce the application with little or no programming. Features of MEGADATS-4 that provide for rapid prototyping and for producing stand-alone applications are examined.
Asunto(s)
Recolección de Datos , Sistemas de Administración de Bases de Datos , Enfermedades Genéticas Congénitas , Programas Informáticos , Humanos , LinajeRESUMEN
This paper describes the MEGADATS (MEdical Genetics Acquisition and DAta Transfer System) data base development project for collecting, storing, retrieving, and plotting human family pedigrees. The newest system, MEGADATS-3M, is described. The microcomputer version of MEGADATS-3M and the use of MEGADATS-3M in the support of the Huntington's disease research roster project are emphasized. Examples of data input and pedigree plotting are shown.